BPIB6_HUMAN
ID BPIB6_HUMAN Reviewed; 453 AA.
AC Q8NFQ5;
DT 29-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=BPI fold-containing family B member 6;
DE AltName: Full=Bactericidal/permeability-increasing protein-like 3;
DE Flags: Precursor;
GN Name=BPIFB6; Synonyms=BPIL3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Tonsil;
RX PubMed=12185532; DOI=10.1007/s00251-002-0467-3;
RA Mulero J.J., Boyle B.J., Bradley S., Bright J.M., Nelken S.T., Ho T.T.,
RA Mize N.K., Childs J.D., Ballinger D.G., Ford J.E., Rupp F.;
RT "Three new human members of the lipid transfer/lipopolysaccharide binding
RT protein family (LT/LBP).";
RL Immunogenetics 54:293-300(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [4]
RP VARIANT HIS-296.
RX PubMed=21076407; DOI=10.1038/ng.712;
RA Vissers L.E., de Ligt J., Gilissen C., Janssen I., Steehouwer M.,
RA de Vries P., van Lier B., Arts P., Wieskamp N., del Rosario M.,
RA van Bon B.W., Hoischen A., de Vries B.B., Brunner H.G., Veltman J.A.;
RT "A de novo paradigm for mental retardation.";
RL Nat. Genet. 42:1109-1112(2010).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Detected at very low levels in normal tonsils, and
CC at higher levels in hypertrophic tonsils.
CC -!- SIMILARITY: Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.
CC {ECO:0000305}.
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DR EMBL; AF465767; AAM73985.1; -; mRNA.
DR EMBL; AL121756; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS13211.1; -.
DR RefSeq; NP_777557.1; NM_174897.2.
DR AlphaFoldDB; Q8NFQ5; -.
DR SMR; Q8NFQ5; -.
DR BioGRID; 126166; 203.
DR STRING; 9606.ENSP00000344929; -.
DR GlyGen; Q8NFQ5; 3 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q8NFQ5; -.
DR PhosphoSitePlus; Q8NFQ5; -.
DR BioMuta; BPIFB6; -.
DR DMDM; 34395537; -.
DR jPOST; Q8NFQ5; -.
DR MassIVE; Q8NFQ5; -.
DR PaxDb; Q8NFQ5; -.
DR PeptideAtlas; Q8NFQ5; -.
DR PRIDE; Q8NFQ5; -.
DR Antibodypedia; 25493; 66 antibodies from 14 providers.
DR DNASU; 128859; -.
DR Ensembl; ENST00000349552.1; ENSP00000344929.1; ENSG00000167104.11.
DR GeneID; 128859; -.
DR KEGG; hsa:128859; -.
DR MANE-Select; ENST00000349552.1; ENSP00000344929.1; NM_174897.2; NP_777557.1.
DR UCSC; uc010zuc.2; human.
DR CTD; 128859; -.
DR DisGeNET; 128859; -.
DR GeneCards; BPIFB6; -.
DR HGNC; HGNC:16504; BPIFB6.
DR HPA; ENSG00000167104; Tissue enriched (salivary).
DR MIM; 614110; gene.
DR neXtProt; NX_Q8NFQ5; -.
DR PharmGKB; PA25406; -.
DR VEuPathDB; HostDB:ENSG00000167104; -.
DR eggNOG; KOG4160; Eukaryota.
DR GeneTree; ENSGT01020000230460; -.
DR HOGENOM; CLU_031635_1_0_1; -.
DR InParanoid; Q8NFQ5; -.
DR OMA; FMGGNME; -.
DR OrthoDB; 1099604at2759; -.
DR PhylomeDB; Q8NFQ5; -.
DR TreeFam; TF315617; -.
DR PathwayCommons; Q8NFQ5; -.
DR Reactome; R-HSA-6803157; Antimicrobial peptides.
DR SignaLink; Q8NFQ5; -.
DR BioGRID-ORCS; 128859; 11 hits in 1062 CRISPR screens.
DR GenomeRNAi; 128859; -.
DR Pharos; Q8NFQ5; Tdark.
DR PRO; PR:Q8NFQ5; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q8NFQ5; protein.
DR Bgee; ENSG00000167104; Expressed in olfactory segment of nasal mucosa and 4 other tissues.
DR ExpressionAtlas; Q8NFQ5; baseline and differential.
DR Genevisible; Q8NFQ5; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0008289; F:lipid binding; IEA:InterPro.
DR InterPro; IPR017943; Bactericidal_perm-incr_a/b_dom.
DR InterPro; IPR032948; BPIFB6.
DR InterPro; IPR001124; Lipid-bd_serum_glycop_C.
DR InterPro; IPR017942; Lipid-bd_serum_glycop_N.
DR PANTHER; PTHR46019:SF2; PTHR46019:SF2; 1.
DR Pfam; PF01273; LBP_BPI_CETP; 1.
DR Pfam; PF02886; LBP_BPI_CETP_C; 1.
DR SMART; SM00329; BPI2; 1.
DR SUPFAM; SSF55394; SSF55394; 2.
PE 1: Evidence at protein level;
KW Disulfide bond; Glycoprotein; Reference proteome; Secreted; Signal.
FT SIGNAL 1..18
FT /evidence="ECO:0000255"
FT CHAIN 19..453
FT /note="BPI fold-containing family B member 6"
FT /id="PRO_0000017168"
FT CARBOHYD 114
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 190
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 137..174
FT /evidence="ECO:0000250"
FT VARIANT 16
FT /note="T -> M (in dbSNP:rs17301126)"
FT /id="VAR_033632"
FT VARIANT 97
FT /note="V -> I (in dbSNP:rs2070317)"
FT /id="VAR_024518"
FT VARIANT 149
FT /note="P -> T (in dbSNP:rs11907355)"
FT /id="VAR_033633"
FT VARIANT 296
FT /note="R -> H (de novo variant found in a patient with
FT intellectual disability; dbSNP:rs79809934)"
FT /evidence="ECO:0000269|PubMed:21076407"
FT /id="VAR_065088"
FT VARIANT 347
FT /note="S -> G (in dbSNP:rs4911287)"
FT /id="VAR_033634"
SQ SEQUENCE 453 AA; 49717 MW; 19379CA22A41CE5C CRC64;
MLRILCLALC SLLTGTRADP GALLRLGMDI MNQVQSAMDE SHILEKMAAE AGKKQPGMKP
IKGITNLKVK DVQLPVITLN FVPGVGIFQC VSTGMTVTGK SFMGGNMEII VALNITATNR
LLRDEETGLP VFKSEGCEVI LVNVKTNLPS NMLPKMVNKF LDSTLHKVLP GLMCPAIDAV
LVYVNRKWTN LSDPMPVGQM GTVKYVLMSA PATTASYIQL DFSPVVQQQK GKTIKLADAG
EALTFPEGYA KGSSQLLLPA TFLSAELALL QKSFHVNIQD TMIGELPPQT TKTLARFIPE
VAVAYPKSKP LTTQIKIKKP PKVTMKTGKS LLHLHSTLEM FAARWRSKAP MSLFLLEVHF
NLKVQYSVHE NQLQMATSLD RLLSLSRKSS SIGNFNEREL TGFITSYLEE AYIPVVNDVL
QVGLPLPDFL AMNYNLAELD IVENALMLDL KLG
